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Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]
[中文简述(自动翻译):]  由RNA聚合酶II转录起始需要70多个多肽的活动。它协调这些活动的蛋白质是基础转录因子TFIID,其结合的核心启动子正确定位聚合酶,作为支架的转录复合物的其余部分的组件,并作为调节信号的信道。 TFIID是由TATA结合蛋白(TBP)和一组被称为TBP相关因子或TAFS进化保守的蛋白质的。 TAFS可能参与基础转录,作为共激活因子,功能的启动子识别或修改一般转录因子(基转移酶),以方便复杂的组装和转录起始。该基因编码TFIID的最大亚基。此亚基结合于包含转录起始位点的核心启动子序列。它还结合到活化剂和其它转录调节,并且这些相互作??用影响转录起始的速率。这种亚单位含有在N-和C-末端的两个独立的蛋白激酶结构域,但也具有乙酰转移酶活性,并且可以作为泛素活化/偶联酶。在该基因导致肌张力障碍3,扭转突变,X连锁,一个张力障碍 - 帕金森症。这个基因的选择性剪接的结果在多个转录变体。该基因是一个复杂的转录单位(TAF1 / DYT3),其中,一些转录物变体与TAF1共享的外显子以及其他下游DYT3外显子的一部分。 [由RefSeq的,2013年10月提供]
TAF1基因(以及对应的蛋白质)的细胞分布位置:
TAF1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Dystonia 3, Torsion, X-Linked | 0.363800186 | 14 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET |
Coronary Arteriosclerosis | 0.004734064 | 2 | 0 | GAD |
Dystonia | 0.002985861 | 11 | 0 | BeFree |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Angina Pectoris | 0.002367032 | 1 | 0 | GAD |
Meningococcal Infections | 0.002367032 | 1 | 0 | GAD |
Deep Vein Thrombosis | 0.002367032 | 1 | 0 | GAD |
Pulmonary Thromboembolisms | 0.002367032 | 1 | 0 | GAD |
Blood pressure finding | 0.002367032 | 1 | 0 | GAD |
Systemic arterial pressure | 0.002367032 | 1 | 0 | GAD |
Venous Thromboembolism | 0.002367032 | 1 | 0 | GAD |
Hyperprothrombinemia | 0.002367032 | 1 | 0 | GAD |
Atherothrombosis | 0.002367032 | 1 | 0 | GAD |
Thrombotic Microangiopathies | 0.002367032 | 1 | 0 | GAD |
Parkinsonian Disorders | 0.002171535 | 8 | 0 | BeFree |
Dystonia Disorders | 0.002171535 | 8 | 0 | BeFree |
Anaplastic thyroid carcinoma | 0.001085767 | 4 | 0 | BeFree |
Thyroid carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of thyroid | 0.000542884 | 2 | 0 | BeFree |
Developmental Disabilities | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Thyroid Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Follicular thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Poorly differentiated carcinoma | 0.000271442 | 1 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Parkinsonism-Dystonia, Infantile | 0.000271442 | 1 | 0 | BeFree |
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